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Gene Review

DEGS1  -  delta(4)-desaturase, sphingolipid 1

Homo sapiens

Synonyms: Cell migration-inducing gene 15 protein, DEGS, DEGS-1, DES1, Degenerative spermatocyte homolog 1, ...
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Disease relevance of DEGS1

  • Stenosis progression and regression of individual lesions were defined as a change in MLD of > or = 0.40 mm [1].
  • Although the residual CS activity in the patient's extracts was clearly demonstrable only after partial purification, it was concluded that this activity protects organ tissues from sulfatide accumulation in PASAD, since in sulfatide lipidosis (metachromatic leukodystrophy, MLD) no residual CS activity was detectable [2].
  • DES-1 was distantly related to Ambler class A beta-lactamases and most closely related to PenA from Burkholderia pseudomallei (48% amino acid identity) [3].
  • In tissues of other patients with severe demyelinating diseases different from DDS and MLD, this galactolipid ratio was also found to be increased, especially in three patients with adrenoleukodystrophy [2].
  • 4 patients with osteopetrosis (n = 2), MLD (n = 1), Wiskott Aldrich dis [4].

Psychiatry related information on DEGS1

  • METHOD: In both experiments children with autism were matched for non-verbal and verbal ability with a group of children with moderate (non-specific) mental retardation (MLD) and a group of typically developing children respectively [5].
  • Correlational analyses including factor analysis indicated that the MLD is a fairly independent measure but that central masking, brief tone audiometry and difference limen for intensity represent related auditory tasks [6].

High impact information on DEGS1

  • Long-term changes in minimal (MLD) and mean (MEAN) luminal diameter were measured (in millimeters) after administration of isosorbide dinitrate in 19 spastic and 93 nonspastic segments in group 1 and in 17 previously spastic and 81 nonspastic segments in group 2 [1].
  • We report here on the high incidence of late infantile MLD among Muslim Arabs originating from Jerusalem, most probably because of a founder effect [7].
  • The Epstein-Barr virus-determined nuclear antigen (EBNA) was purified from extracts of the human lymphoid cell lines Raji, Namalwa, and B95-8/MLD by two different methods [8].
  • However, the selectivity of these disintegrins to interact with integrins is related to the amino acid composition of the integrin-binding loop in the MLD-containing subunit [9].
  • They are potent inhibitors of certain leukocyte integrins such as alpha4beta1, alpha4beta7, and alpha9beta1, and act through the MLD motif present in one of their subunits [9].

Chemical compound and disease context of DEGS1

  • When administered to Swiss white mice at doses of 30 and 60 microg/mouse, dicyclomine protected the animals challenged with 50 MLD of Salmonella typhimurium NCTC 74 [10].

Biological context of DEGS1

  • The derived amino acid sequence of MLD contains three consensus motifs, HX3H, HX2HH, and HX2HHXFP, that are characteristic of a group of membrane fatty acid desaturases [11].
  • Karyotypic analysis indicated that the best interferon-producing strain, MLD (over 60,000 reference units/ml), has a translocation between chromosomes 5 and 15 [12].
  • The detection of heterozygotes for MLD based on enzyme assays of a general population is highly unreliable [13].
  • Cells from MLD patients demonstrated no significant sulfatide hydrolysis, whereas cultures from heterozygous subjects hydrolyzed diminished but definite amounts of sulfatide [14].
  • The electrophysiological audiogram of the Guinea fowl has been obtained using auditory evoked potentials from the MLD of unanesthetized birds [15].

Anatomical context of DEGS1

  • MLD is widely expressed in human tissues and is localized to the endoplasmic reticulum [11].
  • 1. The influence of sound location and sound frequency on the responses of single units in the midbrain auditory area (MLD) of the owl (Tyto alba) were studied using a movable sound source under free-field conditions [16].
  • The proteins TIP47, S3-12, and OXPAT/MLDP/PAT-1 move from the cytosol to coat nascent lipid droplets during rapid fat storage [17].
  • Nonetheless, MLD myelin, while still retaining its characteristic-morphology, had increased levels of sulfatides (two to four times that normally found) [18].
  • DATA SOURCES: The English-language literature in MLD, LINE and other databases was searched through April 1996 using the terms "fetal membranes," "premature rupture," and "term." METHODS OF STUDY SELECTION: We included randomized trials comparing two or more management schemes for PROM at term [19].

Associations of DEGS1 with chemical compounds

  • MLD is predicted to be a multiple membrane-spanning protein and is found to be extractable from particulate fractions with detergent but not salt or urea [11].
  • The two-dimensional models (e.g., MLD and pre-RT diffusion capacity for carbon monoxide) generally provided greater ROC areas (0.61-0.72) [20].
  • The synthesis required the activation of the bis-t-butyl glutamate ester 2 to the isocyanate 3 followed by addition of DES 1 [21].
  • The gas-liquid chromatographic behaviour of all the dimethylene interrupted methyl cis,cis-octadecadienoates was studied on polar (Carbowax 20M, FFAP, DEGA, DEGS and Silar 10C), semi-polar (XE-60) and non-polar (SE-30, OV-101 and Apiezon L) stationary phases [22].
  • The desired DES-glutamate 5 was water-soluble and upon incubation with carboxypeptidase G2 (CPG2) underwent carbamate cleavage to give DES 1 [21].

Analytical, diagnostic and therapeutic context of DEGS1

  • Both MLD and MEAN were measured in 210 coronary segments of the 30 patients at baseline and after administration of ergonovine and isosorbide dinitrate by use of a computer-based quantitative coronary angiography system [1].
  • Overall, the models that considered a measure of pre-RT lung function (i.e., pulmonary function tests), the MLD, and mean perfusion-weighted lung dose were best correlated with outcome (ROC area: 0.7) (p < 0.05 compared to unidimensional models) [20].
  • As an animal model, ASA(-/-) mice have previously been generated by disruption of the ASA gene and are known to develop lysosomal sulfatide storage similar to that in human MLD, and, moreover, to become deaf because of degeneration of the primary neurons of the auditory pathway [23].
  • Two variables were independently associated with the long-term outcome: MLD post stenting and stent type [24].
  • At 6-month control, the restenosis rate was comparable in the PTCR and in the PTCA group (37% vs. 35%, P = 0.658), whereas diameter stenosis was significantly more severe in the PTCR group than in the PTCA group (52% vs. 46%, P = 0.039) and, correspondingly, the MLD was significantly smaller in the PTCR group (1.29 mm vs. 1.44 mm, P = 0.031) [25].


  1. Progression and regression of coronary stenosis in the long-term follow-up of vasospastic angina. Ozaki, Y., Keane, D., Serruys, P.W. Circulation (1995) [Pubmed]
  2. Brain galactolipid content in a patient with pseudoarylsulfatase A deficiency and coincidental diffuse disseminated sclerosis, and in patients with metachromatic, adreno-, and other leukodystrophies. Harzer, K., Kustermann-Kuhn, B. J. Neurochem. (1987) [Pubmed]
  3. Biochemical-genetic analysis and distribution of DES-1, an Ambler class A extended-spectrum beta-lactamase from Desulfovibrio desulfuricans. Morin, A.S., Poirel, L., Mory, F., Labia, R., Nordmann, P. Antimicrob. Agents Chemother. (2002) [Pubmed]
  4. Haploidentical bone marrow transplantation in leukemia and genetic diseases. Andolina, M., Maximova, N., Rabusin, M., Vujic, D., Bunjevacki, G., Vidali, C., Beorchia, A. Haematologica (2000) [Pubmed]
  5. Do children with autism perceive second-order relational features? The case of the Thatcher illusion. Rouse, H., Donnelly, N., Hadwin, J.A., Brown, T. Journal of child psychology and psychiatry, and allied disciplines. (2004) [Pubmed]
  6. Masking level difference: a measure of auditory processing capability. Goldstein, D.P., Stephens, S.D. Audiology (1975) [Pubmed]
  7. A single origin for the most frequent mutation causing late infantile metachromatic leucodystrophy. Zlotogora, J., Furman-Shaharabani, Y., Harris, A., Barth, M.L., von Figura, K., Gieselmann, V. J. Med. Genet. (1994) [Pubmed]
  8. Purification of the Epstein-Barr virus-determined nuclear antigen from Epstein-Barr virus-transformed human lymphoid cell lines. Luka, J., Lindahl, T., Klein, G. J. Virol. (1978) [Pubmed]
  9. Structural requirements of MLD-containing disintegrins for functional interaction with alpha 4 beta 1 and alpha 9 beta1 integrins. Bazan-Socha, S., Kisiel, D.G., Young, B., Theakston, R.D., Calvete, J.J., Sheppard, D., Marcinkiewicz, C. Biochemistry (2004) [Pubmed]
  10. Antibacterial potential of an antispasmodic drug dicyclomine hydrochloride. Karak, P., Kumar, K.A., Mazumdar, K., Mookerjee, M., Dastidar, S.G. Indian J. Med. Res. (2003) [Pubmed]
  11. The product of the MLD gene is a member of the membrane fatty acid desaturase family: overexpression of MLD inhibits EGF receptor biosynthesis. Cadena, D.L., Kurten, R.C., Gill, G.N. Biochemistry (1997) [Pubmed]
  12. Aging in vitro and large-scale interferon production by 15 new strains of human diploid fibroblasts. Horoszewicz, J.S., Leong, S.S., Ito, M., Di Berardino, L., Carter, W.A. Infect. Immun. (1978) [Pubmed]
  13. Heterozygote detection in MLD. allelic mutations at the ARA locus. Farrell, D.F. Hum. Genet. (1981) [Pubmed]
  14. Cerebroside sulfatase activity in cultivated human skin fibroblasts and amniotic fluid cells;. Booth, C.W., Chen, K.K., Nadler, H.L. J. Pediatr. (1975) [Pubmed]
  15. Infrasound responses in the midbrain of the guinea fowl. Theurich, M., Langner, G., Scheich, H. Neurosci. Lett. (1984) [Pubmed]
  16. Space and frequency are represented separately in auditory midbrain of the owl. Knudsen, E.I., Konishi, M. J. Neurophysiol. (1978) [Pubmed]
  17. A proposed model of fat packaging by exchangeable lipid droplet proteins. Wolins, N.E., Brasaemle, D.L., Bickel, P.E. FEBS Lett. (2006) [Pubmed]
  18. Biochemical studies of the late infantile form of metachromatic leukodystrophy. Poduslo, S.E., Miller, K., Jang, Y. Acta Neuropathol. (1982) [Pubmed]
  19. Premature rupture of membranes at term: a meta-analysis of three management schemes. Mozurkewich, E.L., Wolf, F.M. Obstetrics and gynecology. (1997) [Pubmed]
  20. Receiver operating characteristic curves to assess predictors of radiation-induced symptomatic lung injury. Lind, P.A., Marks, L.B., Hollis, D., Fan, M., Zhou, S.M., Munley, M.T., Shafman, T.D., Jaszczak, R.J., Coleman, R.E. Int. J. Radiat. Oncol. Biol. Phys. (2002) [Pubmed]
  21. Diethylstilbestrol glutamate as a potential substrate for ADEPT. Pedone, E., Searle, F., Brocchini, S. Journal of drug targeting (2006) [Pubmed]
  22. Fatty acids. VII. The gas-liquid chromatographic properties of all dimethylene interrupted methyl cis,cis-octadecadienoates. Lam, C.H., Lie Ken Jie, M.S. J. Chromatogr. (1976) [Pubmed]
  23. Lysosomal sulfatide storage in the brain of arylsulfatase A-deficient mice: cellular alterations and topographic distribution. Wittke, D., Hartmann, D., Gieselmann, V., Lüllmann-Rauch, R. Acta Neuropathol. (2004) [Pubmed]
  24. Does stent design affect the long-term outcome after coronary stenting? Elbaz, M., El Mokhtar, E., Fourcade, J., Mourali, S., Hobeika, R., Carrié, D., Puel, J. Catheterization and cardiovascular interventions : official journal of the Society for Cardiac Angiography & Interventions. (2002) [Pubmed]
  25. Angiographic analysis of immediate and long-term results of PTCR vs. PTCA in complex lesions (COBRA study). Dietz, U., Rupprecht, H.J., Ekinci, O., Dill, T., Erbel, R., Kuck, K.H., Abdollahnia, R., Rippin, G., Meyer, J., Hamm, C. Catheterization and cardiovascular interventions : official journal of the Society for Cardiac Angiography & Interventions. (2001) [Pubmed]
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